Glycogen storage disease due to liver glycogen phosphorylase deficiency[1]
Glycogen
Specialty
Endocrinology
Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.[2] It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.[3] The scope of GSD VI now also includes glycogen storage disease type VIII,[2] IX[2] (caused by phosphorylase b kinase deficiency) and X[2] (deficiency protein kinase A).
The incidence of GSD VI is approximately 1 case per 65,000–85,000 births,[2] representing approximately 30% all cases of glycogen storage disease.
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Glycogen storage disease due to liver glycogen phosphorylase deficiency". www.orpha.net. Retrieved 11 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ abcdeGlycogen-Storage Disease Type VI at eMedicine
^Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French). 9 (1): 35–55. PMID 13646331.
and 24 Related for: Glycogen storage disease type VI information
GlycogenstoragediseasetypeVI (GSD VI) is a type of glycogenstoragedisease caused by a deficiency in liver glycogen phosphorylase or other components...
A glycogenstoragedisease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...
Glycogenstoragediseasetype I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary...
Glycogenstoragediseasetype III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates)...
Mucolipidoses; Mucolipidosis IV is a gangliosidosis Also, glycogenstoragediseasetype II (Pompe disease) is a defect in lysosomal metabolism as well, although...
related to phosphorylases: Glycogenstoragediseasetype V - muscle glycogenGlycogenstoragediseasetypeVI - liver glycogen Hydrolase Nelson DL, Lehninger...
tissues. In glycogenstoragediseasetypeVI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose...
deletion Glycogenstoragediseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. GSD type II (Pompe disease) GSD type V (McArdle...
heart failure, which leads to liver congestion Galactosemia Glycogenstoragediseasetype IV Cystic fibrosis Hepatotoxic drugs or toxins, such as acetaminophen...
carbohydrates metabolism. Glycogenstoragediseases are deficiencies of enzymes or transport proteins which impair glycogen synthesis, glycogen degradation or glycolysis...
known as PGM1-CDG or CDG syndrome type 1t (CDG1T), formerly known as glycogenstoragediseasetype 14 (GSD XIV). The disease is both a glycogenosis and a congenital...
phosphorylase kinase genes are the cause of glycogenstoragediseasetype IX (GSD type IX) and GSD typeVI (formerly GSD type VIII), which can affect the liver...
anticipated results of increased muscle mass, and faster recovery of glycogenstorage during post-exercise recovery. A review of clinical trials reported...
Muscle GlycogenStorageDisease study group (December 2021). "Clinical practice guidelines for glycogenstoragedisease V & VII (McArdle disease and Tarui...
glucose levels by acting on pancreatic insulin release and liver control of glycogen breakdown stimulate gene expression of glucose transporters in the intestinal...
and archaea. Some bacteria produce intracellular nutrient storage granules, such as glycogen, polyphosphate, sulfur or polyhydroxyalkanoates. Bacteria...
(glycogen synthase) can be increased in skeletal muscle. This discovery represents a potential novel therapeutic approach for glycogenstoragedisease...
Stoffwechsels und der Ernährung", 1881, Vol. VI in Hermann´s "Handbuch d. Physiologie")" "Work on diseases of the eye in lepers, as published in his work...
between WNT ligand and G protein-coupled receptor Frizzled inhibits GSK-3 (Glycogen Synthase Kinase-3) and thus formation of β-catenin destruction complex...
Global Information
